Screening for inherited thrombophilia and genome sequencing / 浙江大学学报·医学版

ABSTRACT

OBJECTIVE@#To screening coagulation and anticoagulation genes and mutations in Chinese patients with venous thromboembolism suspected of inhered thrombophilia.@*METHODS@#Patients with venous thromboembolism caused by inherited thrombophilia were collected from the second Affiliated Hospital, Zhejiang University School of Medicine during June 2015 and December 2017. Gene sequencing was conducted to screen the anticoagulant-related genes and coagulation-related genes . The thousands of human genome database, ESP6500 database, Genoma database, HGMD mutation database were used to compare the mutation sites, and the pathogenic mutation sites were predicted according to SIFT, Polyphen, MutationTaster and CADD databases.@*RESULTS@#Among 25 patients screened, eight patients with mutations, two patients with mutations, three patients with mutations; one patient with mutation, one patient with mutation, one patient with mutation, two patient with mutations, and one patient with mutation.@*CONCLUSIONS@#The second generation gene sequencing helps to diagnose inherited thrombophilia and guide the decision of anticoagulation duration.